KeithKennethVauxMD

PubMed

• 19 citations
  A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
  Danny Antaki, James Guevara, Adam X Maihofer, Marieke Klein, Madhusudan Gujral, Jakob Grove, Caitlin E Carey, Oanh Hong, Maria J Arranz, Amaia Hervas, Christina Corsel...> ;Nature Genetics. 2022 Sep 1
• 47 citations
  Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
  Danny Antaki, James Guevara, Adam X Maihofer, Marieke Klein, Madhusudan Gujral, Jakob Grove, Caitlin E Carey, Oanh Hong, Maria J Arranz, Amaia Hervas, Christina Corsel...> ;Nature Genetics. 2022 Aug 1
• 10 citations
  Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD.
  Yaqiong Xiao, Teresa H Wen, Lauren Kupis, Lisa T Eyler, Disha Goel, Keith Vaux, Michael V Lombardo, Nathan E Lewis, Karen Pierce, Eric Courchesne> ;Nature Human Behaviour. 2022 Mar 1
• 32 citations
  Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.
  Christina D. Chambers, Diana Johnson, Ronghui Xu, Yunjun Luo, Janina Lopez-Jimenez, Margaret P. Adam, Stephen R. Braddock, Luther K. Robinson, Keith K. Vaux, Kenneth L...> ;Plos One. 2019 Oct 18
• 25 citations
  Erratum : Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Jour...
  Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Val...> ;American Journal of Human Genetics. 2018 Nov 1
• 13 citations
  Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
  Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K Vaux, Valen...> ;American Journal of Human Genetics. 2018 Sep 6
• 113 citations
  Paternally inherited cis-regulatory structural variants are associated with autism.
  William M. Brandler, Danny Antaki, Madhusudan Gujral, Morgan L. Kleiber, Joe Whitney, Michelle S. Maile, Oanh Hong, Timothy R. Chapman, Shirley Tan, Prateek Tandon, Ti...> ;Science. 2018 Apr 20
• 427 citations
  Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities
  Philip A. May, Christina D. Chambers, Wendy O. Kalberg, Jennifer A. Zellner, Haruna S. Feldman, David Buckley, David Kopald, Julie M. Hasken, Ronghui Xu, Gordon Honerk...> ;JAMA. 2018 Feb 6
• Inside "Outside" Job: Unexpected Geometric Skin Ulcerations Overlying Orthopedic Hardware After Multimodal Laser Scar Revision.
  Jenna Borok, Katherine Ferris, Keith K. Vaux, Andrew C. Krakowski> ;Dermatologic Surgery. 2017 Dec 1
• 42 citations
  FOXP1 -related intellectual disability syndrome: a recognisable entity
  Ilse Meerschaut, Daniel Rochefort, Nicole Revencu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radl...> ;Journal of Medical Genetics. 2017 Sep 1
• 58 citations
  Frequency and Complexity of De Novo Structural Mutation in Autism.
  William M. Brandler, Danny Antaki, Madhusudan Gujral, Amina Noor, Gabriel Rosanio, Timothy R. Chapman, Daniel J. Barrera, Guan Ning Lin, Dheeraj Malhotra, Amanda C. Wa...> ;American Journal of Human Genetics. 2016 Apr 7
• 24 citations
  Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
  Rasim Ozgur Rosti, Esra Dikoglu, Maha S. Zaki, Ghada M H Abdel-Salam, Nawal Makhseed, Jordan C. Sese, Damir Musaev, Basak Rosti, Mary J. Harbert, Marilyn C. Jones, Kei...> ;American Journal of Medical Genetics. Part A. 2016 Jan 5
• 156 citations
  Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
  Alicia Guemez-Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben-Omran, Naiara Akizu, Rasim Ozgur Rosti, Basak Rosti, Eric Scott, Jana Schroth, ...> ;Nature Genetics. 2015 Jul 1
• 111 citations
  Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
  Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Ozgur Rosti, Jana Schroth, Tommaso Mazza, Elide Miccini...> ;Elife. 2015 May 30
• 92 citations
  Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
  Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Gelot, Basak Rosti, Keith K. Vaux, Eric Scott, J...> ;Nature Genetics. 2015 May 1
• 394 citations
  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
  Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour, Amira...> ;Science. 2014 Jan 31
• 55 citations
  The genetic landscape of autism spectrum disorders
  Rasim Ozgur Rosti, Abdelrahim Abdrabou Sadek, Keith K. Vaux, Joseph G. Gleeson> ;Developmental Medicine and Child Neurology. 2014 Jan 1
• 77 citations
  AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
  Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith K. Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy,...> ;Cell. 2013 Aug 1
• 151 citations
  Evidence-Based Recommendations for the Diagnosis and Treatment of Pediatric Acne
  Lawrence F. Eichenfield, Andrew C. Krakowski, Caroline Piggott, James Q Del Rosso, Hilary Baldwin, Sheila Fallon Friedlander, Moise L. Levy, Anne W. Lucky, Anthony J. ...> ;Pediatrics. 2013 May 1
• 12 citations
  Use of Multiplanar 3-Dimensional Ultrasonography for Prenatal Sex Identification
  Lauren K. Hackett, Maryam Tarsa, Tanya Wolfson, George W. Kaplan, Keith K. Vaux, Dolores H. Pretorius> ;Journal of Ultrasound in Medicine. 2010 Feb 1
• 3 citations
  Placenta Accreta in a Separate Uterine Horn
  Mariah R. Baughn, Keith Vaux, Eliezer Masliah> ;Pediatric and Developmental Pathology. 2010 Jan 1
• 1 citations
  Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
  David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James B. Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, Gregory M. ...> ;Human Genetics. 2009 Aug 1
• 24 citations
  The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
  David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen D. Cederbaum, James B. Gibson, Michael J. Gambello, Keith K. Vaux, Patricia A. Ward, Gr...> ;American Journal of Medical Genetics. Part A. 2008 Nov 15
• 13 citations
  Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.
  Kenneth L. Jones, William S. Webster, Keith K. Vaux, Kurt Benirschke> ;Birth Defects Research. Part A, Clinical and Molecular Teratology. 2008 Aug 1
• 279 citations
  Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
  Nicole Revencu, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Maria R. Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulalia Basel...> ;Human Mutation. 2008 Jul 1
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Journal Articles

• Evidence-based Recommendations for the Diagnosis and Treatment of Pediatric Acne  
  Eichenfield LF, Krakowski AC, Piggott C, Del Rosso J, Baldwin H, Friedlander SF, Levy M, Lucky A, Mancini AJ, Orlow SJ, Yan AC, Vaux KK, Webster G, Zaenglein AL, Thibo..., Pediatrics, 5/1/2013
• Fetal Alcohol Syndrome  
  Vaux KK, Chambers C, 10/17/2012
• Novel Human Pathological Mutations Gene Symbol: ASS1 Disease: Citrullinaemia  
  Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P, Hum Genet, 8/1/2009
• Parkes Weber Syndrome, Vein of Galen Aneurysmal Malformation, and Other Fast-flow Vascular Anomalies and Specific Neural Tumors Associated with RASA1 Mutations  
  N. Revencu, L.M. Boon, J.B. Mulliken, O. Enjolras, M.R. Cordisco, P.E. Burrows, P.H. Clapuyt, F. Hammer, J. Dubois, E. Baselga, F.Brancati, B. Dallapiccola, R. Carder,..., Human Mutation, 4/29/2008
• Megalourethra: A Report of Three Cases Associated with Maternal Diabetes and a Review of the Literature Is Sonic Hedgehog the Common Pathway?  
  Vaux KK, Benirschke K, Jones, MC, Jones, KL, Am J Med Genet A, 1/30/2005
• The Neonatal Phenotype of Kabuki Syndrome  
  Vaux KK, Hudgins L, Roeder E, Curry C, Jones MC, Jones KL, Am J Med Genet A, 1/30/2005
• Look For the 'Stuck Baby' to Identify Congenital Torticollis  
  Stellwagen LM, Hubbard E, Vaux, KK, Contemporary Pediatrics, 3/18/2004
• Acardiac Twin with Externalized Intestine Adherent to Placenta: Unusual Manifestation of Omphalocele  
  Emery SC, Vaux KK, Pretorius D, Masliah E, Benirschke K, Pediatric Dev Pathol, 1/1/2004
• Vocal Cord Abnormalities in Williams Syndrome: A Further Manifestation of Elastin Deficiency  
  Vaux, K.K., Wojtczak, H., Benirschke, K., Jones, K.L., Am J Med Genet, 1/1/2003
• Cyclophophamide, Methotrexate and Cytarabin Embryopathy: Is Apoptosis the Common Pathway?  
  Vaux KK, Khaole N, Jones KL., Clinical and Molecular Teratology, 1/1/2003
• A Clinical Guide to Inherited Metabolic Diseases, 2nd ed  
  Vaux KK, J Hered, 1/1/2003
• Using the Emergency Department Medical Record in Financial and Epidemiologic Research  
  Rydman, R.J., Mullner, R.M., Vaux, K.K., Kampe, L, Journal of Health Information Management Research, 1/1/1992
• Preventive Control of AIDS: A Survey of Dental Practices in a Large Urban Area  
  Rydman, R.J., Yale, S.M., Vaux, K.K., Mullner, R.M., Journal of Public Health Dentistry, 1/1/1990
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Books/Book Chapters

• Critical Care of the Neonate 
  Chapter: Teratology 
  Vaux KK, Chan L, Jones KLEditors: Spitzer.Edition Thir,2005
• Human Malformations and Related Anomalies 
  Chapter: Pectoral Girdle, Spine, Ribs, and Pelvic Girdle 
  Hudgins L and Vaux KKEdition 2nd,2005

Abstracts/Posters

• Multiple Arterial Aneurysms in a 6-week Old Infant
  Vaux KK, Bird LM., Mortimer D, David W. Smith Workshop on Malformations and Morphogenesis, 1/1/2012
• Capillary Malformation, Arterial Venous Malformation Syndrome
  Vaux KK, Hudgins L, DWS Workshop on Morphogenesis, 9/1/2006
• Conjoined Twins: Fission or Fusion, Could the Answer Be So Simple?
  Vaux KK, Benirschke K, Judy Hall Symposium of Congenital Anomalies and Developmental Mechanisms, Carmel, CA, 2/5/2005
• Ziprasidone Embryopathy: Are the Defects Caused by Pharmacologically Induced Fetal Arrhythmias?
  Vaux KK, Jones KL, Western Society for Pediatric Research, Carmel, CA, 1/1/2005
• Abnormal Pax1 Expression Is a Factor in Vertebral and Rib Anomalies Seen in VATER Association
  Vaux KK, Masliah E, Crews L, Jones KL, DWS Meeting. Proceedings of the Greenwood Genetic Center, 2005, Snowbird, Utah, 8/18/2004
• Placental Anomalies in Artificial Reproductive Technology Conceived Pregnancies
  Vaux KK, Benirschke K, Mannino F, Jones KL, DWS Meeting. Proceedings of the Greenwood Genetic Center, 2005, Snowbird, Utah, 8/18/2004
• Placental Abnormalities associated with Misoprostol Administration
  Vaux KK, Chambers CH, Chamit R, Benirshke K, Vanazzi E, Jones KL, 44th Teratology Society Annual Meeting, Vancouver, BC, 6/30/2004
• Left-Right Axis Defects in Infants of Women with Diabetes: Further Evidence of the Link between Maternal Diabetes and Sonic Hedgehog
  Vaux KK, Benirschke K, Bird L, Jones KL, DWS Workshop on Morphogenesis, Proceedings of the Greenwood Genetic Center, Vancouver, BC, 1/1/2004
• Marshall Syndrome
  Vaux, KK, Jones, KL, Western Society for Pediatric Research, Journal of Investigative Medicine, Carmel, CA, 1/1/2004
• The Acardiac Fetus: Evidence in Support of a Vascular Pathogenesis for Isolated Clefting
  Vaux KK, Jones KL, Benirschke K, DWS Meeting. Proceedings of the Greenwood Genetic Center, 1/1/2004
• Developmental Outcome in Kabuki Syndrome
  Hudgins L, Vaux KK, Jones M, Jones KL, Grix A, Schelley S, DWS Workshop on Morphogenesis, Proceedings of the Greenwood Genetic Center, Greenville, SC, 1/1/2003
• The Neonatal Phenotype of Kabuki Syndrome
  Vaux KK, Hudgins L, Roeder E, Curry C, Jones MC, Jones KL, DWS Workshop on Morphogenesis, Proceedings of the Greenwood Genetic Center, Greenville, SC, 1/1/2003
• Cyclophophamide Embryopathy
  Vaux KK, Khaole N, Jones KL, Teratology Society Meeting, Teratology, Scottsdale AZ, 1/1/2002
• Multiple Circumferential Constriction Rings with Lineal Creases Over the Tibia, Mental Retardation and Autosomal Recessive Inheritance
  Vaux KK, King JC, Jones KL, DWS Workshop on Morphogenesis, San Diego, CA. Proceedings of the Greenwood Genetic Center, 1/1/2001
• Cyclophophamide, Methotrexate and Cytarabin Embryopathy: Is Apoptosis the Common Pathway?
  Vaux KK, Khaole N, Jones KL, Western Society for Pediatric Research
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Lectures

• Trisomy 21 
  San Diego - 10/1/2014
• Dermatologic Manifestations of Systemic Diseases 
  San Diego, CA - 2/1/2014
• Visual Diagnosis, Genetic Diseases 
  San Diego, CA - 2/1/2014
• Advances in Genetics: How Will They Impact Your Practice? 
  San Diego, CA - 3/20/2013
• Undiagnosed Neurogenetic Diseases 
  San Diego, CA - 2/4/2013
• Update on Genetic Testing and Its Impact on Patient Care 
  Scripps Mercy Hospital - 3/15/2012
• Seizures 
  San Diego, CA - 11/9/2011
• Caring for the Medically Complex Child 
  San Diego, CA - 11/9/2011
• Middle East Siblings with Complex Genetic Defects 
  11/8/2011
• Metabolic Emergencies 
  San Diego, CA - 2/8/2011
• Evidence Based Medicine 
  San Diego, CA - 1/1/2011
• Genetic Disorders of Connective Diseases 
  San Diego, CA - 11/19/2010
• Trisomy 13 and 18, a Review and Discussion 
  San Diego, CA - 11/6/2010
• Common Syndromes and Genomic Sciences: How Genetics Will Change Our Understanding of Human Disease 
  San Diego, CA - 5/10/2010
• Genetics Primer 
  San Diego, CA - 2/17/2010
• New Genetics and Personalized Medicine 
  Jacksonville, FL - 11/19/2009
• Evidence Based Medicine and Leading a Health Care Team 
  San Diego, CA - 10/10/2009
• The Technology Dependent Child 
  4/15/2009
• Recognition, Management and Etiology of Pediatric Seizures 
  10/8/2008
• Conotruncal Heart Lesions, History and Future Direction 
  Naval Medical Center - 1/1/2007
• Development of the Vascular System 
  Los Angeles, CA - 12/1/2006
• Capillary Malformation, Arterial Venous Malformation Syndrome 
  9/1/2006
• Genetic Conditions Incompatible with Life 
  San Diego Hospice and Palliative Care - 5/1/2006
• Left-Right Axis Defects in Infants of Women with Diabetes: Further Evidence of the Link between Maternal Diabetes and Sonic Hedgehog 
  Vancouver, BC - 8/1/2005
• Genetics in the Newborn Nursery 
  UCSD - 3/1/2005
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Other

• Health Risks with Energy Drinks 
  KUSI News, San Diego, CA by Bridget Naso
  11/20/2012
• Fetal Alcohol Syndrome 
  Vaux KK, Chambers C, eMedicine from WebMD
  10/17/2012
• California Mom Charged With Leaving Baby in Hot Car 
  ABC World News with Diane Sawyer by Audree Steinberg
  7/27/2012
• Baby Left in Hot Car; Shopping Mom Held 
  U-T San Diego by Debbi Baker
  7/25/2012
• Rattlesnake Bite Victim's Father Explains Actions 
  KNSD NBC San Diego by Tony Shin
  Rady Children's Hospital - 4/24/2012
• Producer: Dr. Ami Doshi. "Comfort Code." Educational Innovations Video 
  American Academy of Hospice and Palliative Medicine
  Vancouver, BC - 2/18/2011
• Dangers of Small Magnetic Balls 
  KNSD NBC San Diego News
  San Diego, CA - 2/17/2011
• Communications 6 - Crisis in the Dialysis Unit: How Do We Respond? 
  
  San Diego, CA - 2/5/2011
• Luke, the Gift of a Lifetime 
  The San Diego Union-Tribune Kids' Newsday
  http://www.helpsdkids.org/page.aspx?pid=666
  10/1/2010
• Featured Physician: KUSI - Kids Care Fest Sunday 
  
  9/26/2010
• Recognizing and Managing Seizures within the School Setting 
  EPliveOnline
  8/11/2009
• Current Treatment Therapies for Spasticity in People with Cerebral Palsy and Developmental Disabilities: Part 2-In cooperation with EPliveOnline 
  
  4/28/2009
• Current Treatment Therapies for Spasticity in People with Cerebral Palsy and Developmental Disabilities: Part 1-in cooperation with EPliveOnline 
  
  3/31/2009
• Immunization Practices among Military Providers, Practices and Education Program 
  Continuing Education Program for Armed Forces Pediatrics
  6/1/2000
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